Annular pancreas in two consecutive siblings: an extremely rare case

Area of Science:

• Medical Genetics
• Pediatric Surgery
• Congenital Anomalies

Background:

• Annular pancreas is a rare congenital anomaly affecting pancreatic tissue encircling the duodenum.
• It can cause duodenal obstruction, presenting significant surgical challenges in neonates.
• Familial cases are exceptionally rare, with only six reported instances in the literature.

Observation:

• This report details two siblings, a brother and sister, diagnosed with annular pancreas from consecutive pregnancies.
• Both neonates presented with prenatal diagnosis of duodenal obstruction.
• Surgical intervention involved duodenoduodenal anastomosis; the female sibling also had a mobile ascending colon.

Findings:

• The reported familial occurrence is the seventh documented instance of annular pancreas within a single family.
• This case aligns with previously reported familial presentations, contributing to a total of 16 affected individuals across six families.
• A higher prevalence in females (12 females vs. 4 males) suggests a potential sex-influenced autosomal recessive inheritance pattern.

Implications:

• This case highlights the importance of recognizing familial patterns in rare congenital anomalies like annular pancreas.
• Further documentation of familial cases is crucial for elucidating potential genetic transmission mechanisms.
• Understanding the genetic basis may inform future genetic counseling and management strategies for affected families.